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Holoprosencephaly: a family showing dominant inheritance and variable expression
A L Collins1, P W Lunt, C Garrett
1Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton.
Journal of Medical Genetics
|January 1, 1993
Summary
This study describes a family with dominant holoprosencephaly, a brain malformation. Minor gene manifestations like hypotelorism and microcephaly were observed in carriers.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Holoprosencephaly (HPE) is a spectrum of brain malformations.
- Dominant inheritance patterns of HPE are rare but significant.
- Identifying genetic causes is crucial for understanding HPE.